ArticleScientific reports2018
Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 9 citations in OpenAlex.
- Variants ofJournal of the Endocrine Society · 2022Article
- From mutation to mechanism: deciphering the molecular function of genetic variants linked to human ageing.Briefings in functional genomics · 2022Article
- Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding.Nature communications · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Although genome-wide association studies (GWAS) have identified numerous genetic loci associated with complex diseases, the underlying molecular mechanisms of how these loci contribute to disease pathogenesis remain largely unknown, due to the lack of an efficient strategy to identify these risk variants. Here, we proposed a new strategy termed integrated transcriptome and epigenome analysis (iTEA) to identify functional genetic variants in non-coding elements. We considered type 2 diabetes mellitus as a model and identified a well-known diabetic risk variant rs35767 using iTEA. Furthermore, we discovered a new functional SNP, rs815815, involved in glucose metabolism. Our study provides an approach to directly and quickly identify functional genetic variants in type 2 diabetes mellitus, and this approach can be extended to study other complex diseases.
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